Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
IQCA1_chr2_236319151_236512476	236358278	TATATATA others(57): Show TATATATACTATATGAATATATATAATATATAGATATATACTATATGAAT ATATATGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG03486.hp2 others(1): Show HG02257.hp1 HG03139.hp1 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0165 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170	4	208	0.0192	-64	c.186 others(83): Show c.1869+5438_1869+5501delCTATATATCATATATATTCATATAGT ATATATCTATATATTATATATATTCATATAGTATATAT		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18					chr2	TogoVar
ISG20_chr15_88634016_88661483	88652411	CCCTCCTC others(57): Show CCCTCCTCCTCCCCCTCCTCCTTCTCCTCCTCCTTCTCCTCCCTCCTCCC CCTCCTCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(128): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18970.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19083.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0011 others(1): Show a0001c0001 a0001c0003 a0002c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0002 a0002c0011t0002 a0003c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0043 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0203 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0264 a0001c0001t0001g0273 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0004g0121 a0001c0001t0008g0031 a0001c0003t0002g0027 a0001c0003t0002g0084 a0002c0011t0002g0001 a0003c0008t0002g0134	131	436	0.3005	-64	c.429 others(79): Show c.429+110_429+173delTCCCCCTCCTCCTTCTCCTCCTCCTTCTCC TCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC		ISG20	ENSG00000172183.16	transcript	ENST00000306072.10	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr15	TogoVar
ITGA9_chr3_37447141_37828507	37512116	CCTTCTTT others(57): Show CCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 NA18942.hp1 HG02922.hp1 HG02976.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0004g0032 a0001c0001t0005g0076 a0001c0001t0007g0045 a0001c0001t0004g0032 a0001c0001t0005g0076 a0001c0001t0007g0045	3	168	0.0179	-64	c.898 others(81): Show c.898-1646_898-1583delCTTCTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27					chr3	TogoVar
ITGAM_chr16_31254975_31337877	31334556	TCCTTCCT others(57): Show TCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTTC TTTTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0080 a0002c0003t0003g0080	1	244	0.0041	-64	c.28 others(75): Show c.2850_*2913delCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTTCCT TCCTTCCTTCCTTTCTTTTTTCTTTCTTTC		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding				1680		chr16	TogoVar
ITIH5_chr10_7554270_7671966	7566768	AAGAAAGA others(57): Show AAGAAAGAAGAAAGAAGAAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAA GAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0000 a0000	a0000c0082 a0000c0082	a0000c0082t0007 a0000c0082t0007	a0000c0082t0007g0286 a0000c0082t0007g0286	1	342	0.0029	-64	c.215 others(81): Show c.2150-425_2150-362delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTTCTTCTTTCTTCTTTCT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13					chr10	TogoVar
ITIH5_chr10_7554270_7671966	7624816	CATATATA others(57): Show CATATATATGTGTATATACATGTATATACACATATATATGTGTATATATG TATATATGTATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0261 a0001c0001t0042g0261	1	342	0.0029	-64	c.653 others(81): Show c.653-7598_653-7535delATACATACATATATACATATATACACAT ATATATGTGTATATACATGTATATACACATATATAT		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13					chr10	TogoVar
ITSN2_chr2_24197864_24365536	24251347	ATGTGTGT others(57): Show ATGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTGTATATATATGT GTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19240.hp1 NA19077.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0205 a0003c0002t0001g0180 a0001c0001t0001g0205 a0003c0002t0001g0180	2	224	0.0089	-64	c.312 others(81): Show c.3120+934_3120+997delCACATATATATATACACATATATATACA CATACATATATACACACACACACACACACACACACA		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39					chr2	TogoVar
JRK_chr8_142652460_142674967	142673946	TCATCTTC others(57): Show TCATCTTCCTAATGAATAACGGCTGGGAATCGTTTCAGTCTAACCTCAGC AGAGCGCAGATCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	466	0.0022	-64	c.-45 others(75): Show c.-4541_-4478delGGTGATCTGCGCTCTGCTGAGGTTAGACTGAAAC GATTCCCAGCCGTTATTCATTAGGAAGATG		JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding				3980		chr8	TogoVar
JRK_chr8_142652460_142674967	142674186	TGCAGAGC others(57): Show TGCAGAGCTCAGATCCCCCATCTTCCTAATGAATAACGGCTGGGAATCGT TTCAGTCTAACCTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02738.hp1 NA20752.hp1 HG01261.hp1 HG02738.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0005 a0001c0011 a0003c0005	a0001c0011t0001 a0003c0005t0007 a0001c0011t0001 a0003c0005t0007	a0001c0011t0001g0157 a0001c0011t0001g0170 a0003c0005t0007g0007 a0001c0011t0001g0157 a0001c0011t0001g0170 a0003c0005t0007g0007	3	466	0.0064	-64	c.-47 others(75): Show c.-4781_-4718delTGAGGTTAGACTGAAACGATTCCCAGCCGTTATT CATTAGGAAGATGGGGGATCTGAGCTCTGC		JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding				4220		chr8	TogoVar
KANK4_chr1_62231165_62324434	62278313	TTTTCTTT others(57): Show TTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01884.hp2 NA18991.hp2 HG01255.hp2 HG01884.hp2 NA18991.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0036 a0002c0003 a0004c0043 a0001c0036 a0002c0003 a0004c0043	a0001c0036t0005 a0002c0003t0002 a0004c0043t0011 a0001c0036t0005 a0002c0003t0002 a0004c0043t0011	a0001c0036t0005g0274 a0002c0003t0002g0072 a0004c0043t0011g0164 a0001c0036t0005g0274 a0002c0003t0002g0072 a0004c0043t0011g0164	3	322	0.0093	-64	c.16+ others(79): Show c.16+3172_17-3227delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA		KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9					chr1	TogoVar
KCNG2_chr18_79792938_79905100	79826575	GTTCGGCG others(57): Show GTTCGGCGCGTTACGTCATTACGTTCAGTGAAAACTGAGTGAGCAGCTCC TCACGGAAGATTACA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	312	0.0032	-64	c.-11 others(85): Show c.-115+28583_-115+28646delGTTCAGTGAAAACTGAGTGAGCAG CTCCTCACGGAAGATTACATTCGGCGCGTTACGTCATTAC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21528732	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	80	0.0125	-64	c.61+ others(83): Show c.61+419775_61+419838delCCTTTCTTCCTTTCTTCCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528740	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGA AGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	80	0.0125	-64	c.61+ others(83): Show c.61+419767_61+419830delCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528744	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAA AGGAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	80	0.0125	-64	c.61+ others(83): Show c.61+419763_61+419826delCCTTCCTTTCTTCCTTTCTTCCTTTC TTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528748	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGA AGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	80	0.0125	-64	c.61+ others(83): Show c.61+419759_61+419822delCCTTCCTTCCTTTCTTCCTTTCTTCC TTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528752	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAA AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0033	1	80	0.0125	-64	c.61+ others(83): Show c.61+419755_61+419818delCCTTCCTTCCTTCCTTTCTTCCTTTC TTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528756	AAAGAAAG others(57): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGGA AGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	80	0.0125	-64	c.61+ others(83): Show c.61+419751_61+419814delCCTTCCTTCCTTCCTTCCTTTCTTCC TTTCTTCCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8					chr4	TogoVar
KCNK2_chr1_215077737_215242090	215093797	AATATAAA others(57): Show AATATAAAATATATTATATATTATATATTATATATAAAATATATTATATA TTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0141 a0001c0001t0035g0141	1	260	0.0039	-64	c.357 others(81): Show c.357+7121_357+7184delTATAAAATATATTATATATTATATATTA TATATAAAATATATTATATATTATATATTATATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178759359	ATATCTCC others(57): Show ATATCTCCAAGAGGATATATATATATATATATCTCTCCAAGAGGATATAT ATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	232	0.0043	-64	c.-67 others(83): Show c.-67-47982_-67-47919delATCTCCAAGAGGATATATATATATAT ATATCTCTCCAAGAGGATATATATATATATATATATCT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759404	TATATATA others(57): Show TATATATATATATATATATCTCTCCAAGAGGATATATATATATATATATA TATATCTCCAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01517.hp2 HG02559.hp2 others(1): Show HG01255.hp1 HG01517.hp2 HG02559.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0108 a0001c0001t0002g0094 a0001c0001t0002g0118 others(1): Show a0001c0001t0001g0108 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0004g0136	4	232	0.0172	-64	c.-67 others(83): Show c.-67-47920_-67-47857delCTCTCCAAGAGGATATATATATATAT ATATATATATCTCCAAGAGGATATATATATATATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379422	AATATTAT others(57): Show AATATTATATAACATATTATATATTTATAGAATATATTATATAACATATT ATATATTTATAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01433.hp2 others(13): Show HG01081.hp1 HG01099.hp2 HG01433.hp2 HG01993.hp1 HG02109.hp1 HG02280.hp1 HG02293.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1 NA19030.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0054 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0243	16	250	0.0640	-64	c.121 others(85): Show c.1218+15478_1218+15541delTATAGAATATATTATATAACATAT TATATATTTATAGAATATATTATATAACATATTATATATT		KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNT1_chr9_135697185_135800502	135754002	ACACTCCA others(57): Show ACACTCCAGCTCCCAATAGCCAGGCGCTCAGAGGCCTGGGACCAGGGTGG GGTGGGATGAGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	272	0.0037	-64	c.491 others(78): Show c.491+88_491+151delATAGCCAGGCGCTCAGAGGCCTGGGACCAGG GTGGGGTGGGATGAGTCTCCACTCCAGCTCCCA		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	5/30				INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722390	TTAGAAGT others(57): Show TTAGAAGTTATTTATAAATAAGTTATTTATAAATAGAAGTTATTTATAAA TAAGTTATTTATAAA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03710.hp1 HG03831.hp1 others(11): Show HG02165.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 NA18941.hp1 NA18979.hp2 NA18999.hp2 NA19011.hp2 NA19063.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003	a0001c0002t0002g0086 a0001c0003t0001g0008 a0001c0003t0003g0008 others(5): Show a0001c0002t0002g0086 a0001c0003t0001g0008 a0001c0003t0003g0008 a0001c0003t0003g0026 a0001c0003t0003g0108 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150	14	442	0.0317	-64	c.135 others(83): Show c.1356+3362_1356+3425delGAAGTTATTTATAAATAAGTTATTTA TAAATAGAAGTTATTTATAAATAAGTTATTTATAAATA		KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD16_chr5_144165873_144490686	144287290	TCATCAGT others(57): Show TCATCAGTGGGGAGAAGCTGGTGTGAGGCGGGACACCAGTTCAAATGCTG CTGTGGATTTCAGAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00733.hp2 others(39): Show HG00280.hp1 HG00323.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02300.hp1 HG02523.hp1 HG02622.hp1 HG02683.hp2 HG02922.hp2 HG03041.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18952.hp2 NA18956.hp1 NA18973.hp2 NA18984.hp2 NA18989.hp2 NA19002.hp2 NA19005.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0031 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0002c0005t0002	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0054 others(39): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0002g0120 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0006g0065 a0001c0001t0006g0074 a0001c0001t0008g0105 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0009g0026 a0001c0001t0009g0151 a0001c0001t0010g0052 a0001c0001t0011g0100 a0001c0001t0011g0117 a0001c0001t0011g0119 a0001c0001t0016g0139 a0001c0001t0019g0078 a0001c0001t0031g0051 a0001c0001t0036g0082 a0001c0001t0043g0049 a0001c0001t0044g0057 a0001c0001t0045g0050 a0001c0001t0050g0089 a0002c0005t0002g0149	42	156	0.2692	-64	c.832 others(83): Show c.832+79747_832+79810delTCAGTGGGGAGAAGCTGGTGTGAGGC GGGACACCAGTTCAAATGCTGCTGTGGATTTCAGAGCA		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3				INFO_REALIGN_3_PRIME	chr5	TogoVar
KHDRBS2_chr6_61674961_62291225	61955512	ATATGTAT others(57): Show ATATGTATGTATGTATACATGTGTATATATACACATATGTATGTATACAT GTGTATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04228.hp1 HG03834.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0024 a0001c0001t0012g0023 a0001c0001t0005g0024 a0001c0001t0012g0023	2	244	0.0082	-64	c.483 others(83): Show c.483+22490_483+22553delCGTGTATATATACACATGTATACATA CATATGTGTATATATACACATGTATACATACATACATA		KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8					chr6	TogoVar
KIF1A_chr2_240708767_240825219	240781439	ACACACAC others(57): Show ACACACACACACACACACACAGCTCCACACACACACACACACACACACAG CTCCACACACAGCTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01070.hp1 others(5): Show HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01496.hp1 HG03017.hp2 HG03491.hp2 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 others(2): Show a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0012 a0001c0006t0013	a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0002g0029 others(5): Show a0001c0006t0001g0027 a0001c0006t0001g0028 a0001c0006t0002g0029 a0001c0006t0002g0095 a0001c0006t0006g0022 a0001c0006t0012g0020 a0001c0006t0013g0021 a0001c0006t0013g0025	8	330	0.0242	-64	c.882 others(81): Show c.882+1087_882+1150delGAGCTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48					chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786638	CCATCAGG others(57): Show CCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGA GGGGATGGGAGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG04115.hp2 HG00140.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0223 a0002c0002t0001g0247 a0002c0002t0001g0223 a0002c0002t0001g0247	2	330	0.0061	-64	c.430 others(79): Show c.430-189_430-126delCTGGCTCCCATCCCCTCAGGGGTCCTGGTG GTGGCCCCCACCCCCTCACTCAGGGGTCCTGATG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48					chr2	TogoVar
KIF26A_chr14_104133587_104185894	104183228	CTTGGGGC others(57): Show CTTGGGGCCAGCCCAGGAGCTGGGGCGGCCTTTCATCTGGGACATCAAAG CCCTCAGCCCTGTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0007 a0003c0035t0007	a0003c0035t0007g0353 a0003c0035t0007g0353	1	374	0.0027	-64	c.34 others(75): Show c.3439_*3502delTTGGGGCCAGCCCAGGAGCTGGGGCGGCCTTTCA TCTGGGACATCAAAGCCCTCAGCCCTGTCA		KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding				2335		chr14	TogoVar
KIF27_chr9_83829099_83926432	83848169	CTGATATA others(57): Show CTGATATATCATATATGATATATATGATATATCAGATATGATATATATGA TATATCAGATATGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02630.hp2 others(3): Show HG02109.hp2 HG02559.hp2 HG02630.hp2 HG03139.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0016t0014 a0001c0006t0001 a0001c0016t0014	a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0031 others(3): Show a0001c0006t0001g0028 a0001c0006t0001g0029 a0001c0006t0001g0031 a0001c0006t0001g0032 a0001c0006t0001g0035 a0001c0016t0014g0030	6	346	0.0173	-64	c.355 others(83): Show c.3556+1866_3556+1929delATCATATCTGATATATCATATATATC ATATCTGATATATCATATATATCATATATGATATATCA		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17					chr9	TogoVar
KLHL18_chr3_47277944_47351816	47316476	TATATATA others(57): Show TATATATACATATATACATATATATGTATATATATACATATATACATATA TATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20752.hp2 HG00738.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	338	0.0059	-64	c.130 others(81): Show c.130-3146_130-3083delATATACATATATACATATATATGTATAT ATATACATATATACATATATACATATATATGTATAT		KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9				INFO_REALIGN_3_PRIME	chr3	TogoVar
KMT2C_chr7_152129925_152441003	152307214	GAAGGAAG others(57): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGACGGTAGGAAGGA AGGAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG03516.hp1 HG00639.hp1 HG02109.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0025 a0002c0004t0002g0029 a0002c0004t0002g0167 a0002c0004t0002g0025 a0002c0004t0002g0029 a0002c0004t0002g0167	3	172	0.0174	-64	c.849 others(81): Show c.849+2688_849+2751delTCTTTCTTCCTTCCTTCCTTCCTACCGT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT		KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58					chr7	TogoVar
KNDC1_chr10_133155219_133231412	133220197	CCGCGCGC others(57): Show CCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGG AGGGGCTCAGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02109.hp2 HG02572.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0055 a0001c0001 a0020c0055	a0001c0001t0002 a0020c0055t0002 a0001c0001t0002 a0020c0055t0002	a0001c0001t0002g0247 a0020c0055t0002g0241 a0001c0001t0002g0247 a0020c0055t0002g0241	2	332	0.0060	-64	c.501 others(81): Show c.5018+181_5018+244delCCGCGCGCCCAGGTGAGGAGGGGCTCAG GCGGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220370	TGAGGAGG others(57): Show TGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGTGCTCAGGCG GGCGCGCGCCCAGGA	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	332	0.0030	-64	c.501 others(81): Show c.5018+298_5018+361delTGCTCAGGCGGGCGCGCGCCCAGGAGAG GAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220551	GCGCGCCC others(57): Show GCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAGGAG GGGCTCAGGCGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(35): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG01952.hp1 HG02055.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG03239.hp1 HG03654.hp1 HG04204.hp2 NA18943.hp1 NA19005.hp1 NA19030.hp2 NA20905.hp1	a0001 a0002 a0015 others(2): Show a0001 a0002 a0015 a0018 a0023	a0001c0003 a0001c0004 a0001c0035 others(8): Show a0001c0003 a0001c0004 a0001c0035 a0001c0036 a0001c0070 a0002c0002 a0002c0005 a0002c0022 a0015c0026 a0018c0050 a0023c0064	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(10): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0035t0005 a0001c0036t0003 a0001c0070t0001 a0002c0002t0001 a0002c0005t0001 a0002c0022t0003 a0015c0026t0001 a0018c0050t0001 a0023c0064t0001	a0001c0003t0001g0223 a0001c0003t0003g0009 a0001c0003t0003g0011 others(32): Show a0001c0003t0001g0223 a0001c0003t0003g0009 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0124 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0297 a0001c0003t0003g0300 a0001c0003t0003g0302 a0001c0003t0003g0304 a0001c0003t0005g0307 a0001c0004t0001g0033 a0001c0004t0001g0039 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0136 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0222 a0001c0035t0005g0263 a0001c0036t0003g0275 a0001c0070t0001g0038 a0002c0002t0001g0088 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0022t0003g0291 a0015c0026t0001g0122 a0015c0026t0001g0123 a0018c0050t0001g0113 a0023c0064t0001g0155	38	332	0.1145	-64	c.501 others(81): Show c.5018+503_5018+566delACGCGCCCAGGTGAGGAGGGGCTCAGGC GGGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGCC		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220725	GGAGGGGC others(57): Show GGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCC GCGCGCCCAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp2 HG01517.hp2 others(2): Show HG00733.hp2 HG01243.hp2 HG01517.hp2 HG03704.hp1 NA18957.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0014	a0001c0001 a0002c0002 a0013c0023 others(1): Show a0001c0001 a0002c0002 a0013c0023 a0014c0067	a0001c0001t0002 a0002c0002t0002 a0013c0023t0004 others(1): Show a0001c0001t0002 a0002c0002t0002 a0013c0023t0004 a0014c0067t0002	a0001c0001t0002g0205 a0002c0002t0002g0066 a0002c0002t0002g0121 others(2): Show a0001c0001t0002g0205 a0002c0002t0002g0066 a0002c0002t0002g0121 a0013c0023t0004g0305 a0014c0067t0002g0015	5	332	0.0151	-64	c.501 others(81): Show c.5018+629_5018+692delCCGCGCGCCCAGGTGAGGAGGGGCTCAG GCGGCCGCGCGCCCAGGAGACGAGGGGCTCAGGCGG		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29				INFO_REALIGN_3_PRIME	chr10	TogoVar
KPTN_chr19_47470150_47489219	47474866	CACTAGGG others(57): Show CACTAGGGTCTAACCTCAGCTCTTTCCCTTCCATTTTACGTAATCTGTTC CACAGTGGTTTAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	378	0.0027	-64	c.48 others(73): Show c.486_*549delAGTTAAACCACTGTGGAACAGATTACGTAAAATGGA AGGGAAAGAGCTGAGGTTAGACCCTAGT		KPTN	ENSG00000118162.14	transcript	ENST00000338134.8	protein_coding				283		chr19	TogoVar
KYAT3_chr1_88930779_88997629	88993893	CAGGGCTA others(57): Show CAGGGCTAAAGCTGTAATCGGCAAAGAAGCAACAATCATATTAGCTGGGG GAGGAGGAAAGGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(50): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0006 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0005t0002 a0001c0005t0005 a0002c0004t0002 a0002c0006t0001 a0007c0015t0002	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(36): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0200 a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0004g0012 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0002t0002g0055 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0005g0030 a0001c0003t0001g0044 a0001c0003t0002g0009 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0005g0028 a0001c0003t0005g0029 a0001c0005t0002g0050 a0001c0005t0005g0035 a0002c0004t0002g0008 a0002c0004t0002g0045 a0002c0004t0002g0052 a0002c0006t0001g0016 a0002c0006t0001g0017 a0007c0015t0002g0043	53	312	0.1699	-64	c.-13 others(75): Show c.-1374_-1311delACACCTTTCCTCCTCCCCCAGCTAATATGATTGT TGCTTCTTTGCCGATTACAGCTTTAGCCCT		KYAT3	ENSG00000137944.18	transcript	ENST00000260508.9	protein_coding				1265		chr1	TogoVar
LCN12_chr9_136947273_136960497	136953641	CCTCAGCA others(57): Show CCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCGCCTCCACCTGTCCC CTCCTACAGAGGCCA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp2 HG02523.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0038 a0004c0006t0001g0038	1	382	0.0026	-64	c.252 others(74): Show c.252-58_257delCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCG CCTCCACCTGTCCCCTCCTACAGAGGCCA	p.Gly others(11): Show p.Gly85_Gln86del	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	3/6	252/579	84/192			chr9	TogoVar
LCP2_chr5_170241233_170302777	170289619	TTCTTTCT others(57): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0218 a0001c0001t0007g0218	1	384	0.0026	-64	c.142 others(81): Show c.142-1667_142-1604delGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20					chr5	TogoVar
LDHAL6A_chr11_18450856_18484601	18467939	ACACACAT others(57): Show ACACACATATATATATACGTATATATATACGTATATATATACGTATATAT ATGCATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0280 a0001c0005t0039g0280	1	420	0.0024	-64	c.418 others(81): Show c.418+2130_418+2193delCACACATATATATATACGTATATATATA CGTATATATATACGTATATATATGCATATATATACG		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18467961	ATATATAC others(57): Show ATATATACGTATATATATACGTATATATATGCATATATATACGTATATAT ATACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18956.hp2 NA18985.hp2 others(1): Show HG01993.hp1 NA18956.hp2 NA18985.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 others(1): Show a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231	4	420	0.0095	-64	c.418 others(81): Show c.418+2158_418+2221delCGTATATATATACGTATATATATGCATA TATATACGTATATATATACATATATATACGTATATA		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6				INFO_REALIGN_3_PRIME	chr11	TogoVar
LEMD3_chr12_65164583_65253355	65194701	ACCTTAGC others(57): Show ACCTTAGCAGAATTTGGGCTCCTCTCATCTTCCTAATTTTGTGGTCTTTC ATTAGTTTTACATAG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0177 a0001c0003t0007g0177	1	398	0.0025	-64	c.152 others(85): Show c.1523-16224_1523-16161delCCTTAGCAGAATTTGGGCTCCTCT CATCTTCCTAATTTTGTGGTCTTTCATTAGTTTTACATAG		LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12					chr12	TogoVar
LHFPL5_chr6_35800352_35829070	35823388	TACACACA others(57): Show TACACACACACACACACACACACACACACACACACACATACATACACACA CACATATATATACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0032 a0001c0001t0075g0032	1	386	0.0026	-64	c.45 others(73): Show c.450_*513delACACACACACATACATACACACACACATATATATAC ACACACACACACACACACACACACACAC		LHFPL5	ENSG00000197753.11	transcript	ENST00000360215.3	protein_coding	4/4			3968	INFO_REALIGN_3_PRIME	chr6	TogoVar
LHFPL6_chr13_39337892_39608193	39352847	ATAAATGT others(57): Show ATAAATGTATATATATGTGTATATATATATATAAATGTATATATATGTGT ATATATATATAAATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02083.hp2 HG02630.hp2 others(3): Show HG01243.hp1 HG02083.hp2 HG02630.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0010	a0001c0001t0001g0109 a0001c0001t0004g0187 a0001c0001t0008g0108 others(3): Show a0001c0001t0001g0109 a0001c0001t0004g0187 a0001c0001t0008g0108 a0001c0001t0008g0127 a0001c0001t0010g0039 a0001c0002t0010g0018	6	242	0.0248	-64	c.485 others(81): Show c.485-8857_485-8794delCATTTATATATATATACACATATATATA CATTTATATATATATATACACATATATATACATTTA		LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3					chr13	TogoVar
LMAN2_chr5_177326567_177356668	177326833	GAAAGAAA others(57): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0239 a0001c0001t0003g0240	2	376	0.0053	-64	c.51 others(75): Show c.5189_*5252delTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding				4733		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326837	GAAAGAAA others(57): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	376	0.0027	-64	c.51 others(75): Show c.5185_*5248delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding				4729		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326841	GAAAGAAA others(57): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0168 a0001c0001t0001g0182	2	376	0.0053	-64	c.51 others(75): Show c.5181_*5244delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding				4725		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177326845	GAAAGAAA others(57): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG04204.hp2 NA20752.hp2 HG03927.hp2 HG04204.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0249 a0001c0001t0001g0008 a0001c0001t0001g0249	3	376	0.0080	-64	c.51 others(75): Show c.5177_*5240delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTTTCTTTCTTT		LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding				4721		chr5	TogoVar
LMF1_chr16_848634_975984	948856	GCCAACGA others(57): Show GCCAACGACAGAGTCAGAGCCAATGACAGAGTCAGCCAACGACAGAGTCA GCCAACGACAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01069.hp2 others(6): Show HG00099.hp2 HG00733.hp2 HG01069.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02738.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0030 others(1): Show a0001c0001 a0003c0009 a0003c0030 a0003c0032	a0001c0001t0002 a0003c0009t0001 a0003c0030t0002 others(1): Show a0001c0001t0002 a0003c0009t0001 a0003c0030t0002 a0003c0032t0001	a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 others(6): Show a0001c0001t0002g0266 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0007 a0003c0030t0002g0008 a0003c0032t0001g0006	9	294	0.0306	-64	c.503 others(81): Show c.503+5437_503+5500delGACTCTGTCGTTGGCTGACTCTGTCGTT GGCTGACTCTGTCATTGGCTCTGACTCTGTCGTTGG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10					chr16	TogoVar
LMOD1_chr1_201891456_201951548	201901547	TATATACA others(57): Show TATATACATATATATATGTATATATATATATATATATACATATATATATG TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	400	0.0025	-64	c.262 others(79): Show c.262-860_262-797delGTATATATATATATACATATATATATGTAT ATATATATATATATATACATATATATATGTATAT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2					chr1	TogoVar

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